Incidental Mutation 'R7313:Pcdha7'
ID 567802
Institutional Source Beutler Lab
Gene Symbol Pcdha7
Ensembl Gene ENSMUSG00000104318
Gene Name protocadherin alpha 7
Synonyms Crnr4, Cnr4
MMRRC Submission 045411-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R7313 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 37106864-37320716 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37107471 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 165 (N165K)
Ref Sequence ENSEMBL: ENSMUSP00000142156 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070797] [ENSMUST00000115661] [ENSMUST00000115662] [ENSMUST00000192168] [ENSMUST00000192295] [ENSMUST00000192503] [ENSMUST00000192512] [ENSMUST00000192631] [ENSMUST00000193389] [ENSMUST00000193777] [ENSMUST00000193839] [ENSMUST00000194544] [ENSMUST00000194751] [ENSMUST00000195590]
AlphaFold Q91Y13
Predicted Effect probably benign
Transcript: ENSMUST00000070797
SMART Domains Protein: ENSMUSP00000068828
Gene: ENSMUSG00000103442

DomainStartEndE-ValueType
CA 22 132 3.09e-2 SMART
CA 156 241 6.14e-20 SMART
CA 265 349 3.92e-27 SMART
CA 373 454 4.94e-24 SMART
CA 478 564 1e-24 SMART
CA 592 672 4.55e-14 SMART
transmembrane domain 694 716 N/A INTRINSIC
Pfam:Cadherin_tail 797 931 5.3e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115661
SMART Domains Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458

DomainStartEndE-ValueType
CA 20 131 5.3e-2 SMART
CA 155 240 1.51e-19 SMART
CA 264 348 7.6e-25 SMART
CA 372 453 1.42e-24 SMART
CA 477 563 1.42e-24 SMART
CA 594 674 4.12e-12 SMART
low complexity region 706 721 N/A INTRINSIC
Pfam:Cadherin_tail 796 930 3.9e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115662
SMART Domains Protein: ENSMUSP00000111326
Gene: ENSMUSG00000104148

DomainStartEndE-ValueType
CA 45 131 6.34e-2 SMART
CA 155 240 2.98e-18 SMART
CA 264 348 2.17e-29 SMART
CA 372 453 2.84e-24 SMART
CA 477 563 5.02e-25 SMART
CA 594 675 8.16e-16 SMART
transmembrane domain 695 717 N/A INTRINSIC
low complexity region 916 940 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000192168
SMART Domains Protein: ENSMUSP00000142293
Gene: ENSMUSG00000103092

DomainStartEndE-ValueType
CA 21 131 2.2e-2 SMART
CA 155 240 2.05e-21 SMART
CA 264 348 8.81e-21 SMART
CA 372 453 2.01e-24 SMART
CA 477 563 1.42e-24 SMART
CA 591 673 1.63e-15 SMART
transmembrane domain 693 715 N/A INTRINSIC
low complexity region 902 926 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000192295
SMART Domains Protein: ENSMUSP00000142103
Gene: ENSMUSG00000104252

DomainStartEndE-ValueType
CA 20 131 5.3e-2 SMART
CA 155 240 1.51e-19 SMART
CA 264 348 7.6e-25 SMART
CA 372 453 1.42e-24 SMART
CA 477 568 5.38e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000192503
SMART Domains Protein: ENSMUSP00000141989
Gene: ENSMUSG00000102312

DomainStartEndE-ValueType
low complexity region 11 17 N/A INTRINSIC
CA 42 128 3.78e-2 SMART
CA 152 237 8.94e-22 SMART
CA 261 345 3.74e-24 SMART
CA 369 450 1.09e-25 SMART
CA 474 560 1.42e-24 SMART
CA 588 670 2.96e-13 SMART
transmembrane domain 692 714 N/A INTRINSIC
low complexity region 910 934 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000192512
SMART Domains Protein: ENSMUSP00000141408
Gene: ENSMUSG00000104252

DomainStartEndE-ValueType
CA 20 131 5.3e-2 SMART
CA 155 240 1.51e-19 SMART
CA 264 348 7.6e-25 SMART
CA 372 453 1.42e-24 SMART
CA 477 563 1.42e-24 SMART
CA 594 674 4.12e-12 SMART
low complexity region 706 721 N/A INTRINSIC
low complexity region 915 939 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000192631
AA Change: N165K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142156
Gene: ENSMUSG00000104318
AA Change: N165K

DomainStartEndE-ValueType
CA 21 131 2.58e-2 SMART
CA 155 240 4.27e-19 SMART
CA 264 348 1.42e-24 SMART
CA 372 453 9.36e-25 SMART
CA 477 563 1.42e-24 SMART
CA 594 671 4.03e-6 SMART
transmembrane domain 696 718 N/A INTRINSIC
low complexity region 905 929 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193389
SMART Domains Protein: ENSMUSP00000141459
Gene: ENSMUSG00000103707

DomainStartEndE-ValueType
CA 21 131 5.67e-2 SMART
CA 155 240 4.72e-21 SMART
CA 264 348 1.9e-25 SMART
CA 372 453 3.31e-25 SMART
CA 477 563 1.42e-24 SMART
CA 594 676 5.91e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000193777
SMART Domains Protein: ENSMUSP00000141587
Gene: ENSMUSG00000103707

DomainStartEndE-ValueType
CA 21 131 5.67e-2 SMART
CA 155 240 4.72e-21 SMART
CA 264 348 1.9e-25 SMART
CA 372 453 3.31e-25 SMART
CA 477 563 1.42e-24 SMART
CA 594 676 5.91e-13 SMART
low complexity region 914 938 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193839
SMART Domains Protein: ENSMUSP00000142308
Gene: ENSMUSG00000103442

DomainStartEndE-ValueType
CA 22 132 3.09e-2 SMART
CA 156 241 6.14e-20 SMART
CA 265 349 3.92e-27 SMART
CA 373 454 4.94e-24 SMART
CA 478 564 1e-24 SMART
CA 592 672 4.55e-14 SMART
transmembrane domain 694 716 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193984
Predicted Effect probably benign
Transcript: ENSMUST00000194544
SMART Domains Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836

DomainStartEndE-ValueType
Blast:CA 18 66 5e-20 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000194751
SMART Domains Protein: ENSMUSP00000142285
Gene: ENSMUSG00000103707

DomainStartEndE-ValueType
low complexity region 15 21 N/A INTRINSIC
Pfam:Cadherin_2 29 112 4.5e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000195590
SMART Domains Protein: ENSMUSP00000141355
Gene: ENSMUSG00000104148

DomainStartEndE-ValueType
CA 45 131 6.34e-2 SMART
CA 155 240 2.98e-18 SMART
CA 264 348 2.17e-29 SMART
CA 372 453 2.84e-24 SMART
CA 477 563 5.02e-25 SMART
CA 594 675 8.16e-16 SMART
transmembrane domain 695 717 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 110 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,773,187 (GRCm39) N805S probably damaging Het
Acat2 A G 17: 13,178,893 (GRCm39) V60A probably benign Het
Adam6b A G 12: 113,454,754 (GRCm39) I524V probably benign Het
Adamts16 C T 13: 70,921,074 (GRCm39) W590* probably null Het
Adamts9 C T 6: 92,835,102 (GRCm39) G1257D probably damaging Het
Adgrf5 C T 17: 43,755,974 (GRCm39) T644I probably benign Het
Adgrf5 T G 17: 43,763,368 (GRCm39) probably null Het
Adgrv1 T C 13: 81,668,634 (GRCm39) T2641A possibly damaging Het
Agap3 T C 5: 24,657,382 (GRCm39) F60L probably benign Het
Akap9 C A 5: 4,054,933 (GRCm39) T1626K probably damaging Het
Ampd3 C A 7: 110,405,261 (GRCm39) D603E probably damaging Het
Angpt4 T A 2: 151,767,326 (GRCm39) V119E probably benign Het
Atp6v1a T C 16: 43,934,980 (GRCm39) T70A probably benign Het
B4galt3 T A 1: 171,100,319 (GRCm39) I163N probably damaging Het
Borcs5 C T 6: 134,687,143 (GRCm39) T167M probably damaging Het
Btbd19 T A 4: 116,978,616 (GRCm39) S156C probably damaging Het
Camkk2 C T 5: 122,875,574 (GRCm39) R492Q possibly damaging Het
Casr T C 16: 36,330,033 (GRCm39) I434V probably damaging Het
Cd4 G T 6: 124,844,066 (GRCm39) T394K probably benign Het
Cps1 T C 1: 67,237,517 (GRCm39) L1006P probably damaging Het
Crx G A 7: 15,601,857 (GRCm39) P274S probably damaging Het
Crybg1 T A 10: 43,865,107 (GRCm39) I1457F probably damaging Het
Cul4a C A 8: 13,171,676 (GRCm39) probably benign Het
D430041D05Rik T A 2: 104,085,910 (GRCm39) T196S probably benign Het
Dnah3 T C 7: 119,580,567 (GRCm39) E1995G probably benign Het
Dnm1 T A 2: 32,226,021 (GRCm39) T353S probably damaging Het
Ect2l T A 10: 18,044,149 (GRCm39) T329S probably damaging Het
Elp2 T A 18: 24,742,716 (GRCm39) S83T probably benign Het
Exosc7 A G 9: 122,948,013 (GRCm39) T39A probably benign Het
Fam135a C A 1: 24,096,473 (GRCm39) V91F probably damaging Het
Gab2 G T 7: 96,731,005 (GRCm39) probably benign Het
Gbf1 A T 19: 46,268,793 (GRCm39) I1408F possibly damaging Het
Glis3 C T 19: 28,508,419 (GRCm39) E522K probably damaging Het
Gm10375 A T 14: 43,842,314 (GRCm39) C139S possibly damaging Het
Gm26558 T C 2: 70,492,211 (GRCm39) E81G unknown Het
Gm35315 C T 5: 110,227,091 (GRCm39) C116Y probably benign Het
Gm3676 T A 14: 41,366,064 (GRCm39) I84F probably damaging Het
Gm7145 T A 1: 117,913,932 (GRCm39) H271Q probably damaging Het
Gpat2 T A 2: 127,270,215 (GRCm39) I76N probably damaging Het
Hipk1 A T 3: 103,685,574 (GRCm39) S14T unknown Het
Hlcs C A 16: 94,068,362 (GRCm39) S286I probably damaging Het
Ighg1 A T 12: 113,293,078 (GRCm39) F204Y Het
Igsf10 T C 3: 59,236,837 (GRCm39) I1115V probably benign Het
Klk7 A T 7: 43,462,299 (GRCm39) H97L probably damaging Het
Kmt2d A T 15: 98,754,504 (GRCm39) D1605E unknown Het
Leng8 T A 7: 4,142,525 (GRCm39) I49N possibly damaging Het
Lingo4 A T 3: 94,310,451 (GRCm39) D463V possibly damaging Het
Lrp1 T A 10: 127,389,337 (GRCm39) N3193I probably damaging Het
Lrrc7 T A 3: 157,866,111 (GRCm39) Y1210F probably damaging Het
Mki67 G C 7: 135,296,400 (GRCm39) A2878G probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mtcl3 T A 10: 29,072,875 (GRCm39) Y722* probably null Het
Mucl2 C T 15: 103,929,445 (GRCm39) probably null Het
Myh6 A T 14: 55,197,727 (GRCm39) D470E probably benign Het
Myo1e T C 9: 70,266,667 (GRCm39) probably null Het
Myo7a G A 7: 97,713,402 (GRCm39) R1647W probably damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nmral1 C T 16: 4,531,660 (GRCm39) M198I probably benign Het
Nrap C A 19: 56,330,700 (GRCm39) L1120F probably damaging Het
Nup155 T A 15: 8,184,406 (GRCm39) I1267N probably damaging Het
Obscn G A 11: 58,898,414 (GRCm39) P6616S unknown Het
Ocstamp T G 2: 165,239,229 (GRCm39) D319A probably damaging Het
Ooep T C 9: 78,285,433 (GRCm39) D61G probably damaging Het
Or10p1 A G 10: 129,443,949 (GRCm39) S134P probably benign Het
Or1e25 A T 11: 73,493,810 (GRCm39) I135F probably damaging Het
Or52ad1 A G 7: 102,995,538 (GRCm39) V199A probably benign Het
Or6c5c T C 10: 129,298,856 (GRCm39) S104P probably damaging Het
Or7g35 A G 9: 19,495,938 (GRCm39) Y35C probably damaging Het
Otoa A G 7: 120,701,765 (GRCm39) E148G probably benign Het
Ovgp1 A T 3: 105,894,387 (GRCm39) D720V unknown Het
Padi2 T A 4: 140,660,079 (GRCm39) F294I probably damaging Het
Pcdhb6 C A 18: 37,468,261 (GRCm39) P394H probably damaging Het
Pcdhga6 T C 18: 37,841,072 (GRCm39) V264A possibly damaging Het
Pik3ap1 G T 19: 41,284,815 (GRCm39) D623E possibly damaging Het
Prdm10 A T 9: 31,268,456 (GRCm39) K802* probably null Het
Ptgfrn G A 3: 100,980,363 (GRCm39) L326F possibly damaging Het
Rgsl1 T G 1: 153,683,622 (GRCm39) probably null Het
Rock1 T G 18: 10,129,317 (GRCm39) T347P possibly damaging Het
Rprd2 G A 3: 95,684,022 (GRCm39) P338S probably damaging Het
Sdk1 A T 5: 141,923,377 (GRCm39) N333Y probably damaging Het
Setd4 T A 16: 93,388,132 (GRCm39) H118L probably benign Het
Sirt3 G A 7: 140,458,039 (GRCm39) P37S Het
Slc16a9 G T 10: 70,119,000 (GRCm39) G440W probably damaging Het
Slc22a23 T A 13: 34,367,161 (GRCm39) I616F probably damaging Het
Slc30a8 A C 15: 52,180,707 (GRCm39) D102A probably damaging Het
Slc6a4 T A 11: 76,901,527 (GRCm39) D87E possibly damaging Het
Slc9a4 A C 1: 40,668,663 (GRCm39) T769P probably benign Het
Sspo A T 6: 48,431,762 (GRCm39) Y685F probably damaging Het
Sspo C A 6: 48,450,390 (GRCm39) Q2560K probably benign Het
Stpg1 T A 4: 135,256,827 (GRCm39) L206Q probably damaging Het
Stt3b A T 9: 115,095,183 (GRCm39) Y283N probably damaging Het
Sult4a1 T C 15: 83,970,814 (GRCm39) E197G probably damaging Het
Syne1 T G 10: 4,997,635 (GRCm39) D444A probably damaging Het
Tex15 T A 8: 34,064,845 (GRCm39) V1425E possibly damaging Het
Tgm4 A G 9: 122,891,556 (GRCm39) D557G probably benign Het
Tmcc3 A G 10: 94,266,434 (GRCm39) probably benign Het
Tnfrsf8 T A 4: 145,000,952 (GRCm39) N385Y probably benign Het
Ttc4 T C 4: 106,536,017 (GRCm39) D15G possibly damaging Het
Tut1 A G 19: 8,941,413 (GRCm39) N400S probably benign Het
Usp39 T C 6: 72,313,413 (GRCm39) K259R probably benign Het
Vmn1r215 C T 13: 23,260,484 (GRCm39) H175Y probably benign Het
Vmn1r36 A T 6: 66,693,107 (GRCm39) M256K probably benign Het
Zfp128 T A 7: 12,624,461 (GRCm39) H276Q possibly damaging Het
Zfp276 T C 8: 123,994,562 (GRCm39) M543T probably damaging Het
Zfp354c A T 11: 50,705,483 (GRCm39) Y531N probably damaging Het
Zfp532 T A 18: 65,756,076 (GRCm39) M3K probably damaging Het
Zfp64 T G 2: 168,741,810 (GRCm39) K373Q probably damaging Het
Zfp764l1 C T 7: 126,990,856 (GRCm39) S377N probably benign Het
Zfp983 T G 17: 21,880,413 (GRCm39) S114A probably damaging Het
Zranb1 G A 7: 132,584,481 (GRCm39) R583K probably damaging Het
Other mutations in Pcdha7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2511:Pcdha7 UTSW 18 37,107,786 (GRCm39) missense probably damaging 1.00
R3881:Pcdha7 UTSW 18 37,108,432 (GRCm39) missense probably benign 0.44
R4212:Pcdha7 UTSW 18 37,108,027 (GRCm39) missense probably benign 0.00
R4533:Pcdha7 UTSW 18 37,108,460 (GRCm39) missense possibly damaging 0.73
R4608:Pcdha7 UTSW 18 37,108,870 (GRCm39) missense possibly damaging 0.85
R4766:Pcdha7 UTSW 18 37,107,560 (GRCm39) missense probably damaging 0.99
R4808:Pcdha7 UTSW 18 37,107,281 (GRCm39) missense probably damaging 1.00
R4897:Pcdha7 UTSW 18 37,108,646 (GRCm39) missense probably damaging 1.00
R5030:Pcdha7 UTSW 18 37,108,501 (GRCm39) missense probably damaging 1.00
R5173:Pcdha7 UTSW 18 37,107,705 (GRCm39) missense probably benign 0.03
R5333:Pcdha7 UTSW 18 37,107,619 (GRCm39) missense probably benign 0.14
R5342:Pcdha7 UTSW 18 37,107,724 (GRCm39) missense possibly damaging 0.74
R5463:Pcdha7 UTSW 18 37,108,628 (GRCm39) missense probably damaging 1.00
R5536:Pcdha7 UTSW 18 37,108,303 (GRCm39) missense probably damaging 1.00
R5848:Pcdha7 UTSW 18 37,108,136 (GRCm39) missense probably damaging 1.00
R5858:Pcdha7 UTSW 18 37,109,279 (GRCm39) missense probably damaging 0.99
R5887:Pcdha7 UTSW 18 37,108,960 (GRCm39) missense probably damaging 0.96
R6115:Pcdha7 UTSW 18 37,107,788 (GRCm39) missense probably damaging 0.99
R6496:Pcdha7 UTSW 18 37,107,638 (GRCm39) missense possibly damaging 0.86
R6522:Pcdha7 UTSW 18 37,106,995 (GRCm39) missense possibly damaging 0.74
R6653:Pcdha7 UTSW 18 37,107,539 (GRCm39) missense probably benign 0.01
R6815:Pcdha7 UTSW 18 37,108,174 (GRCm39) missense probably damaging 0.99
R7519:Pcdha7 UTSW 18 37,109,285 (GRCm39) missense possibly damaging 0.93
R7520:Pcdha7 UTSW 18 37,108,366 (GRCm39) missense probably damaging 0.99
R7857:Pcdha7 UTSW 18 37,108,892 (GRCm39) missense probably damaging 0.99
R7939:Pcdha7 UTSW 18 37,109,063 (GRCm39) missense possibly damaging 0.68
R8229:Pcdha7 UTSW 18 37,107,776 (GRCm39) nonsense probably null
R9592:Pcdha7 UTSW 18 37,109,045 (GRCm39) missense probably benign 0.00
R9711:Pcdha7 UTSW 18 37,107,409 (GRCm39) missense probably damaging 1.00
Z1176:Pcdha7 UTSW 18 37,108,893 (GRCm39) missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- TGAATTCTCGCATCGACCGG -3'
(R):5'- AATTGAACGGTGCCTGTCAGC -3'

Sequencing Primer
(F):5'- GAGTGTAGCATCCACCTGG -3'
(R):5'- GCCTGTCAGCTCCGGTTTG -3'
Posted On 2019-06-26